A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642213



Internal ID6682294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36005239..36009242hg38UCSC Ensembl
Innerchr18:36005284..36009198hg38UCSC Ensembl
Outerchr18:36005195..36009287hg38UCSC Ensembl
chr18:33585202..33589205hg19UCSC Ensembl
Innerchr18:33585247..33589161hg19UCSC Ensembl
Outerchr18:33585158..33589250hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg384004
hg194004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15842103
SamplesHG01177
Known GenesRPRD1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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